Narbona, J. (Juan)
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- Detección y estudios específicos en el trastorno de aprendizaje procesal(Viguera, 2009) Narbona, J. (Juan); Magallon-Recalde, S. (Sara)The main disabilities in non-verbal learning disorder (NLD) are: the acquisition and automating of motor and cognitive processes, visual spatial integration, motor coordination, executive functions, difficulty in comprehension of the context, and social skills. AIMS. To review the research to date on NLD, and to discuss whether the term 'procedural learning disorder' (PLD) would be more suitable to refer to NLD. DEVELOPMENT: A considerable amount of research suggests a neurological correlate of PLD with dysfunctions in the 'posterior' attention system, or the right hemisphere, or the cerebellum. Even if it is said to be difficult the delimitation between NLD and other disorders or syndromes like Asperger syndrome, certain characteristics contribute to differential diagnosis. Intervention strategies for the PLD must lead to the development of motor automatisms and problem solving strategies, including social skills. CONCLUSIONS: The basic dysfunction in NLD affects to implicit learning of routines, automating of motor skills and cognitive strategies that spare conscious resources in daily behaviours. These limitations are partly due to a dysfunction in non-declarative procedural memory. Various dimensions of language are also involved: context comprehension, processing of the spatial and emotional indicators of verbal language, language inferences, prosody, organization of the inner speech, use of language and non-verbal communication; this is why the diagnostic label 'PLD' would be more appropriate, avoiding the euphemistic adjective 'non-verbal'.
- El sistema ejecutivo y las lesiones frontales en el niño(Viguera, 2004) Sanchez-Carpintero, R. (Rocío); Narbona, J. (Juan)Frontal lobe syndrome in adulthood is characterised by executive function deficits leading to altered behavioural control with difficulties in social interactions and in maintaining stable jobs and interpersonal relationships. Generalisation of this concept to children with early frontal lobe damage is not straightforward. There are complex interactions between the effects of the lesion itself and the effects in other interconnected regions, timing of lesion, how long it was since the lesion occurred to the time of evaluation, and how old the child is at examination. These facts lead to consider that there might be a number of 'frontal syndromes' in childhood rather than a unique one. We report 9 cases of children with early frontal lobe lesions who were followed up for an average of 10 years. CONCLUSION: A variety of different outcomes suggests that prognosis for these patients might be better that previously reported.
- Subtipos de trastorno específico del desarrollo del lenguaje: perfiles clínicos en una muestra hispanohablante(Viguera, 2006) Narbona, J. (Juan); Crespo-Eguilaz, N. (Nerea)Specific language impairment (SLI) can be viewed as a continuum with different subtypes depending on the combination of deficits and strengths in each of the components of linguistic behavior. AIM. To analyze the phenomenological profiles in a correlative series of Spanish children in order to facilitate their endophenotypic differentiation and the choice of strategies of intervention. PATIENTS AND METHODS: 86 referred children, aged 4 to 9 years, with a mean non-verbal intelligence quotient of 93 (range 72-114) and accomplishing clinical criteria of SLI. Apart from clinical interview and neurological examination, a protocol of questionnaires and tests was used in all subjects in order to measure their formal (phonological, syntactic, lexical) and functional (semantic and pragmatic) linguistic abilities. A cluster analysis of variables was used in order to investigate SLI subtypes. RESULTS: In the total sample, a 24% of whole series have a pure phonological expressive disorder. 55% of subjects have mixed receptive/expressive disorders; from these, the most pervasive subtype is due to verbal agnosia (11%), but more frequently observed subtypes affect syntax reception and expression combined to difficulties in phonological programming (36%) or in lexical retrieval (8%). Furthermore, 21% of the total sample present with difficulties in pragmatic use of language even if their formal linguistic abilities and non-verbal behavior are normal. CONCLUSIONS: Our empirical approach confirms that the admitted SLI subtypes in international literature applies to Spanish-speaking children for endophenotyping and intervention-planning purposes
- Ataxia congénita: problemas fisiopatológicos(Universidad de Navarra, 1981) Morales, G. (G.); Diaz-Tejeiro, P. (P.); Narbona, J. (Juan); Murillo, P. (P.); Montesinos, J. (J.)A 4 pacientes con Síndrome de Desequilibrio (SD) de Hagberg y a otros 4 con ataxia cerebelosa congénita común (ACC) se realizó TAC cerebral y estudio neurofi- siológico. Los potenciales evocados somatosensoriales tenían latencias marcadamente alargadas en la mayor parte de SD, lo que sugiere exista una disfunción en las vías propioceptivas. Ello se puede sospechar por los datos clínicos y contrasta con los caracteres única o predominantemente de tipo cerebeloso de la ACC. En la TAC es prácticamente constante el hallazgo de signos de hipoplasia vermiana en la ACC que pueden o no estar presentes en el SD. Las diferencias clínicas y fisiopato- lógicas existentes entre ambas formas de ataxia congé- nita condicionan un enfoque fisioterápico distinto, de- biendo prestarse especial interés en el SD a los ejerci- cios de propiocepción.
- Procedural skills and neurobehavioral freedom(Frontiers media, 2014) Narbona, J. (Juan); Magallon-Recalde, S. (Sara); Crespo-Eguilaz, N. (Nerea)
- Fenomenología depresiva al inicio de enfermedades neuropediátricas(Viguera editores, 2014) Narbona, J. (Juan)Introducción. La depresión, en sus diversas formas, afecta al 8-10% de niños y adolescentes y en la mayor parte de casos su origen es primario, siguiendo el modelo genético multifactorial. Pero hay una proporción de pacientes, no bien cuantificada todavía, en la que la depresión acompaña precozmente una enfermedad neurológica o marca un punto de inflexión en el curso de ésta. El objetivo es revisar la bibliografía al respecto. Desarrollo. Se observa fenomenología depresiva, con una frecuencia significativamente mayor que por azar, en niños y adolescentes afectos de epilepsia, trastornos del sueño, cefaleas primarias crónicas recurrentes, enfermedades neurome- tabólicas y tumores intracraneales. En varias de estas patologías neuropediátricas se hipotetizan puntos de coincidencia fisiopatológica con la depresión a través de un déficit de disponibilidad cerebral de serotonina y noradrenalina. No se considera aquí la depresión disadaptativa a una neurodiscapacidad crónica. Conclusiones. En niños y adolescentes, los trastornos del ánimo sintomáticos de enfermedad neurológica deben sospechar- se en ausencia de antecedentes familiares o de experiencias vitales que los expliquen. La búsqueda sistemática de anoma- lías neurológicas y los exámenes complementarios permitirían en estos casos abordar precozmente el tratamiento de la enfermedad cerebral causante del cuadro depresivo. A su vez, como ocurre en casos de epilepsia, cefaleas o trastorno del sueño, la terapia farmacológica y psicológica del cuadro depresivo contribuye a mejorar la calidad de vida de los afectados.
- Alta prevalencia del TDAH: ¿niños trastornados, o sociedad maltrecha?(Viguera editores, 2001) Narbona, J. (Juan)
- Esclerosis tuberosa. A propósito de 22 observaciones(Universidad de Navarra, 1997) Narbona, J. (Juan); Jimenez, M. (Miguel); Leon, P. (Pedro); Dwedar, M. (M.)Realizamos una exposición de nuestra casuística, en un periodo comprendido desde 1972 hasta 1991, presentando 22 pacientes con esclerosis tuberosa. Al mismo tiempo realizamos una revisión de la literatura nacional e internacional sobre el tema, destacando sus aspectos epidemiológicos, clínicos, radiológicos, genéticos, diagnósticos, terapéuticos y pronósticos.
- Afasias infantiles congénitas y adquiridas(Universidad de Navarra, 1991) Martinez-Lage, J.M. (José M.); Narbona, J. (Juan); Garcia-Rodriguez, L. (L.)El amplio capítulo de las "disfasias o afasias del desarrollo" y el síndrome de "afasia infantil adquirida y persistente con comicialidad", son ocasión de estudio de modelos clínicos neuro-lingüísticos en los cuales se alteran y recuperan las funciones de decoficiación y codificación verbal en el cerebro en desarrollo . Dos pacientes ejemplifican cada una de las situaciones cita- das.
- Idiopathic epilepsies with seizures precipitated by fever: clinical and genetic study of 132 patients(Wiley, 2007) Bonanni, P. (P.); Dias, I.A. (I. A.); Dravet, C. (C.); Cross, H. (H.); Narbona, J. (Juan); Reid, E. (E.); Ferrari, A.R. (A. R.); Calado, E. (E.); Temudo, T. (T.); Marini, C. (C.); Moreira, A. (A.); Sicca, F. (F.); Michelucci, R. (R.); Mei, D. (D.); Guerrini, R. (R.); Seri, S. (S.); Neville, B. (B.); Buti, D. (D.)Purpose: Mutations in the genes coding for subunits of ion channels have been associated with epilepsy. Of these known epilepsy genes SCN1A, coding for the α subunit of the sodium channel, is currently the most clinically relevant gene. The majority of SCN1A mutations lead to severe myoclonic epilepsy of infancy (SMEI) including borderline SMEI (SMEB) and to generalized epilepsy with febrile seizures plus (GEFS+). Both syndromes have febrile seizures (FS) as a common clinical feature. The aim of this study was to achieve a better definition of the spectrum of phenotypes that might be associated with SCN1A mutations. We aimed to performing phenotype-genotype correlations of SCN1A mutations with specific epilepsy syndromes. Methods: We selected 132 patients in whom most seizures occurred during febrile episodes. A clinical and genetic study focussing on SCN1A screening was performed. Results: Patients were classified as follow: SMEI/ SMEB = 55; GEFS+ spectrum= 25; sporadic myoclonic astatic epilepsy= 3; classical FS= 10; other phenotypes= 25. We identified 40 SCN1A mutations. Of the 40 mutations 37 were found in patients with SMEI in whom mutations were missense in 16 probands (2 familial) and truncating in 21 (2 familial). The remaining 3 missense mutations were associated with GEFS+. Missense mutations in the pore forming parts (S5-S6) of the Na+ channel occurred in 10 out of the 16 SMEI (62,5%) and only in one of the three GEFS+ patients. Mutations in the pore forming region seem to correlate in 70% with the classical SMEI type and only with 30% of the SMEB phenotype. Analysis of the age of seizures onset between SMEI patients with: a) SCN1A truncating mutations, b) SCN1A missense mutations and c) no SCN1A mutations showed that the differences of the age of FS onset was extremely significant between the three groups (p=0,0007, ANOVA test). Patients with truncating mutations had the earlier onset of FS, patients with missense mutations had an intermediate onset, and individuals without SCN1A mutations had the latest age of FS onset. Conclusion: We obtained a prevalence of about 70% of SCN1A mutations in SMEI and SMEB patients and of 12% in GEFS+ probands confirming the predominant and important role of SCN1A in patients with SMEI. None of the other patients with fever-provoked seizures carried mutations in SCN1A gene. The high correlation between SMEI and SCN1A mutations suggests a phenotypical specificity of SCN1A rather than a dysfunction of neurons exacerbated by high body temperature